A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210904



Internal ID20777944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6169981..6170888hg38UCSC Ensembl
chr4:6171708..6172615hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38908
hg19908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6373525
Supporting Variants
Samples
Known GenesJAKMIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210904
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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